{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117972",
  "communityStandardTitle": [
    "NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21181[alleleid]",
        "alleleId": 21181,
        "preferredName": "NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6142",
        "RCV": [
          "RCV000006516",
          "RCV000021054"
        ],
        "variationId": 6142
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26698321A>G?assembly=hg19",
        "id": "chr2:g.26698321A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26475453A>G?assembly=hg38",
        "id": "chr2:g.26475453A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356596",
        "rs": 80356596
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26475453,
          "referenceAllele": "A",
          "start": 26475452
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26475453A>G",
        "CM000664.2:g.26475453A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26698321,
          "referenceAllele": "A",
          "start": 26698320
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26698321A>G",
        "CM000664.1:g.26698321A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 26551825,
          "referenceAllele": "A",
          "start": 26551824
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26551825A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88246,
          "referenceAllele": "T",
          "start": 88245
        }
      ],
      "hgvs": [
        "NG_009937.1:g.88246T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3217,
          "referenceAllele": "T",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.7:c.3032T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Leu1011Pro",
        "hgvsWellDefined": "ENSP00000272371.2:p.Leu1011Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.3032T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.3032T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Leu1011Pro"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Leu1011Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1099,
          "referenceAllele": "T",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.8:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Leu264Pro",
        "hgvsWellDefined": "ENSP00000344521.3:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.791T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.791T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Leu264Pro"
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Leu264Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "referenceAllele": "T",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.8:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.4:p.Leu264Pro",
        "hgvsWellDefined": "ENSP00000383906.4:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "T",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.6:c.3032T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Leu1011Pro",
        "hgvsWellDefined": "ENSP00000272371.2:p.Leu1011Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "T",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000338581.10:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345137.6:p.Leu264Pro",
        "hgvsWellDefined": "ENSP00000345137.6:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "T",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.7:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Leu264Pro",
        "hgvsWellDefined": "ENSP00000344521.3:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "referenceAllele": "T",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.7:c.962T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.3:p.Leu321Pro",
        "hgvsWellDefined": "ENSP00000383906.3:p.Leu321Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3139,
          "referenceAllele": "T",
          "start": 3138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000403946.7:c.3032T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385255.3:p.Leu1011Pro",
        "hgvsWellDefined": "ENSP00000385255.3:p.Leu1011Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826696816",
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "T",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.1:c.3032T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Leu1011Pro",
        "hgvsWellDefined": "NP_001274418.1:p.Leu1011Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570132",
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "T",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.3:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Leu264Pro",
        "hgvsWellDefined": "NP_004793.2:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106884",
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "T",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.2:c.3032T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Leu1011Pro",
        "hgvsWellDefined": "NP_919224.1:p.Leu1011Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054148",
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "referenceAllele": "T",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.2:c.962T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Leu321Pro",
        "hgvsWellDefined": "NP_919303.1:p.Leu321Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830424497",
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "T",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.2:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Leu264Pro",
        "hgvsWellDefined": "NP_919304.1:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3077,
          "referenceAllele": "T",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_005264644.2:c.3077T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264701.1:p.Leu1026Pro",
        "hgvsWellDefined": "XP_005264701.1:p.Leu1026Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3077,
          "referenceAllele": "T",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_011533185.1:c.3077T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531487.1:p.Leu1026Pro",
        "hgvsWellDefined": "XP_011531487.1:p.Leu1026Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3032,
          "referenceAllele": "T",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_017005338.1:c.3032T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860827.1:p.Leu1011Pro",
        "hgvsWellDefined": "XP_016860827.1:p.Leu1011Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826696816",
      "coordinates": [
        {
          "allele": "C",
          "end": 3217,
          "referenceAllele": "T",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.2:c.3032T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Leu1011Pro",
        "hgvsWellDefined": "NP_001274418.1:p.Leu1011Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829570132",
      "coordinates": [
        {
          "allele": "C",
          "end": 1099,
          "referenceAllele": "T",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.4:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Leu264Pro",
        "hgvsWellDefined": "NP_004793.2:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106884",
      "coordinates": [
        {
          "allele": "C",
          "end": 3217,
          "referenceAllele": "T",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.3:c.3032T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Leu1011Pro",
        "hgvsWellDefined": "NP_919224.1:p.Leu1011Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.3032T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.3032T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Leu1011Pro"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Leu1011Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054148",
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "T",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.3:c.962T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Leu321Pro",
        "hgvsWellDefined": "NP_919303.1:p.Leu321Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830424497",
      "coordinates": [
        {
          "allele": "C",
          "end": 1099,
          "referenceAllele": "T",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.3:c.791T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Leu264Pro",
        "hgvsWellDefined": "NP_919304.1:p.Leu264Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.791T>C"
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.791T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Leu264Pro"
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Leu264Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}